Burden of Rare Genetic Variants in Spontaneous Coronary Artery Dissection With High-risk Features.

ABSTRACT:

Importance

The emerging genetic basis of spontaneous coronary artery dissection (SCAD) has been defined as both partially complex and monogenic in some patients, involving variants predominantly in genes known to underlie vascular connective tissue diseases (CTDs). The effect of these genetic influences has not been defined in high-risk SCAD phenotypes, and the identification of a high-risk subgroup of individuals may help to guide clinical genetic evaluations of SCAD.

Objective

To identify and quantify the burden of rare genetic variation in individuals with SCAD with high-risk clinical features.

Design, setting, and participants

Whole-exome sequencing (WES) was performed for subsequent case-control association analyses and individual variant annotation among individ

SUBMITTER: Wang Y 

PROVIDER: S-EPMC9475437 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature